dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30467458C>A , CM000675.2:g.30467458C>A | GRCh38 |
| NC_000013.10:g.31041595C>A , CM000675.1:g.31041595C>A | GRCh37 |
| NC_000013.9:g.29939595C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405805.5:c.-14-3764G>T | ENSP00000384678.1:n.-14-3764G>T | |
| NM_001313893.1:c.-14-3764G>T | NP_001300822.1:n.-14-3764G>T | |
| XM_024449340.1:c.-14-3764G>T | XP_024305108.1:n.-14-3764G>T | |
| NM_001370340.1:c.-14-3764G>T | NP_001357269.1:n.-14-3764G>T |